ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4753-5A>G

gnomAD frequency: 0.00036  dbSNP: rs118097099
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223472 SCV000269278 benign not specified 2016-02-18 criteria provided, single submitter clinical testing c.4753-5A>G in intron 34 of MYH14: This variant is not expected to have clinical significance because it has been identified in 2.5% (97/3862) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs118097099).
Illumina Laboratory Services, Illumina RCV000332271 SCV000414445 benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000907150 SCV001051839 benign not provided 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000907150 SCV001791208 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28191911)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.